Canonical Allele Identifier: CA008025

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792253C>T , CM000663.2:g.237792253C>T	GRCh38
NC_000001.10:g.237955553C>T , CM000663.1:g.237955553C>T	GRCh37
NC_000001.9:g.236022176C>T	NCBI36
NG_008799.2:g.754852C>T
NG_008799.3:g.755070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4804C>T	ENSP00000499659.2:n.*4804C>T
ENST00000659194.3:c.13694C>T	ENSP00000499653.3:p.Thr4565Met
ENST00000660292.2:c.13733C>T	ENSP00000499787.2:p.Thr4578Met
ENST00000659194.2:c.5883C>T
ENST00000366574.7:c.13712C>T MANE Select	ENSP00000355533.2:p.Thr4571Met
ENST00000660292.1:c.3765C>T
ENST00000360064.7:c.13661C>T	ENSP00000353174.7:p.Thr4554Met
ENST00000366574.6:c.13712C>T	ENSP00000355533.2:p.Thr4571Met
ENST00000608590.5:n.223C>T
NM_001035.2:c.13712C>T	NP_001026.2:p.Thr4571Met
XM_006711802.2:c.13766C>T	XP_006711865.1:p.Thr4589Met
XM_006711803.2:c.13763C>T	XP_006711866.1:p.Thr4588Met
XM_006711804.2:c.13742C>T	XP_006711867.1:p.Thr4581Met
XM_006711805.2:c.13736C>T	XP_006711868.1:p.Thr4579Met
XM_006711806.2:c.13730C>T	XP_006711869.1:p.Thr4577Met
XM_006711807.2:c.13706C>T	XP_006711870.1:p.Thr4569Met
XM_006711808.2:c.13529C>T	XP_006711871.1:p.Thr4510Met
XM_006711810.2:c.13673C>T	XP_006711873.1:p.Thr4558Met
XM_006711802.3:c.13766C>T	XP_006711865.1:p.Thr4589Met
XM_006711803.3:c.13763C>T	XP_006711866.1:p.Thr4588Met
XM_006711804.3:c.13742C>T	XP_006711867.1:p.Thr4581Met
XM_006711805.3:c.13736C>T	XP_006711868.1:p.Thr4579Met
XM_006711806.3:c.13730C>T	XP_006711869.1:p.Thr4577Met
XM_006711807.3:c.13706C>T	XP_006711870.1:p.Thr4569Met
XM_006711808.3:c.13529C>T	XP_006711871.1:p.Thr4510Met
XM_006711810.3:c.13673C>T	XP_006711873.1:p.Thr4558Met
XM_017002028.1:c.13745C>T	XP_016857517.1:p.Thr4582Met
NM_001035.3:c.13712C>T MANE Select	NP_001026.2:p.Thr4571Met